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Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy


Karthikeyan, G; Jagadeesh, Sujatha; Seshadri, Suresh; Häberle, J (2013). Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy. Indian Pediatrics, 50(10):965-966.

Abstract

Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnancy revealed an affected fetus resulting in termination of pregnancy.

Abstract

Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnancy revealed an affected fetus resulting in termination of pregnancy.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2013
Deposited On:18 Feb 2014 16:27
Last Modified:06 Dec 2017 18:45
Publisher:Indian Academy of Pediatrics
ISSN:0019-6061
Free access at:Official URL. An embargo period may apply.
Publisher DOI:https://doi.org/10.1007/s13312-013-0239-1
Official URL:http://www.indianpediatrics.net/oct2013/965.pdf
PubMed ID:24222285

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